Sequence information
Variant position: 129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 207 The length of the canonical sequence.
Location on the sequence:
LTLHRSGGHIAHLHVLAVHR
A FRQQGRGPILLWRYLHHLGS
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LTLHRSGGHIAHLHVLAVHRA FRQQGRGPILLWRYLHHLGS
Rhesus macaque LTMHRPGGHIAHLHVLAVHCA FRQQGRGPILLWRYLHHLGS
Chimpanzee LTLHRSGGHIAHLHVLAVHRA FRQQGRGPILLWRYLHHLGS
Mouse LTLHRPGGRTAHLHVLAVHRT FRQQGKGSVLLWRYLHHLGS
Rat LTLHRPGGRTAHLHVLAVHRT FRQQGKGSVLLWRYLHHLGS
Bovine LTLHRPGGRTAHLHALAVHHS FRQQGKGSVLLWRYLQHAGG
Sheep LALHRPRGHSAHLHALAVHRS FRQQGKGSVLLWRYLHHVGA
Chicken LTLHNPRGTAVHIHVLAVHRT FRQQGKGSILMWRYLQYLRC
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 207
Serotonin N-acetyltransferase
Domain
35 – 194
N-acetyltransferase
Binding site
124 – 124
Substrate; via amide nitrogen
Site
120 – 120
Important for the catalytic mechanism; involved in substrate deprotonation
Site
122 – 122
Important for the catalytic mechanism; involved in substrate deprotonation
Literature citations
Significant association of the arylalkylamine N-acetyltransferase (AA-NAT) gene with delayed sleep phase syndrome.
Hohjoh H.; Takasu M.; Shishikura K.; Takahashi Y.; Honda Y.; Tokunaga K.;
Neurogenetics 4:151-153(2003)
Cited for: VARIANT THR-129;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.